|
Costello syndrome (disorder)
|
|
0.900 |
GeneticVariation
|
BEFREE |
To examine the mechanisms of energy reprogramming by HRAS activation in vivo, we generated knock-in mice expressing a heterozygous Hras G12S mutation (Hras<sup>G12S/+</sup> mice) as a mouse model of Costello syndrome.
|
29254681 |
2018 |
|
Costello syndrome (disorder)
|
|
0.900 |
GeneticVariation
|
BEFREE |
Heterozygous mutations in HRAS are responsible for Costello syndrome, with more than 80% of the patients harboring the specific p.Gly12Ser variant.
|
28371260 |
2017 |
|
Costello syndrome (disorder)
|
|
0.900 |
GeneticVariation
|
BEFREE |
Costello syndrome (CS) is a rare congenital disorder due to a G12S amino acid substitution in HRAS protoncogene.
|
26419841 |
2016 |
|
Costello syndrome (disorder)
|
|
0.900 |
GeneticVariation
|
BEFREE |
Germline mutations in the HRAS gene, especially p.(Gly12Ser/Ala), cause Costello Syndrome (CS), a severe congenital disorder.
|
24169525 |
2014 |
|
Costello syndrome (disorder)
|
|
0.900 |
GeneticVariation
|
BEFREE |
Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.
|
22926243 |
2012 |
|
Costello syndrome (disorder)
|
|
0.900 |
GeneticVariation
|
BEFREE |
In the current study, we identified four mutations (p.G12S, p.G12A, p.G12C and p.G12D) in 21 patients and analyzed the associated clinical manifestations of CS in these individuals.
|
21850009 |
2011 |
|
Costello syndrome (disorder)
|
|
0.900 |
GeneticVariation
|
BEFREE |
Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.
|
21834037 |
2011 |
|
Costello syndrome (disorder)
|
|
0.900 |
GeneticVariation
|
BEFREE |
Heterozygous missense mutations in HRAS are causative for Costello syndrome, with the c.34G > A (p.G12S) mutation as the most commonly found alteration.
|
20979192 |
2010 |
|
Costello syndrome (disorder)
|
|
0.900 |
GeneticVariation
|
BEFREE |
Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.
|
19206176 |
2009 |
|
Costello syndrome (disorder)
|
|
0.900 |
GeneticVariation
|
BEFREE |
Costello syndrome (CS) is due to mutations in HRAS, with the most common mutation being c.34G>A (p.G12S), found in most patients in all the published series.
|
18039947 |
2008 |
|
Costello syndrome (disorder)
|
|
0.900 |
GeneticVariation
|
BEFREE |
We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syndrome (G12S mutation in the HRAS gene) and one with cardio-facio-cutaneous (CFC) syndrome or possibly Noonan syndrome (Q22E mutation in the KRAS gene).
|
17324647 |
2007 |
|
Costello syndrome (disorder)
|
|
0.900 |
GeneticVariation
|
BEFREE |
Two disease-associated mutations, G12V and G12S, have previously been observed in patients with Costello syndrome (CS), and two other mutations, E63K and Q22K, are novel.
|
17412879 |
2007 |
|
Costello syndrome (disorder)
|
|
0.900 |
GeneticVariation
|
BEFREE |
De novo heterozygous HRAS point mutations have been reported in more than 81 patients with Costello syndrome (CS), but genotype/phenotype correlation remains incomplete because the majority of patients share a common mutation, G12S, seen in 65/81 (80%).
|
16969868 |
2006 |
|
Costello syndrome (disorder)
|
|
0.900 |
GeneticVariation
|
BEFREE |
Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.
|
16881968 |
2006 |
|
NEVUS, EPIDERMAL (disorder)
|
|
0.710 |
GeneticVariation
|
BEFREE |
A case of woolly hair nevus, multiple linear pigmentation, and epidermal nevi with somatic HRAS p.G12S mutation.
|
30864170 |
2019 |
|
Primary malignant neoplasm
|
|
0.020 |
GeneticVariation
|
BEFREE |
Additionally, the specific p.G12R NRAS mutation in this case is a common somatic mutation in cancer cells, and analysis of previously reported NRAS-RASopathy cases suggests that mutations at traditionally oncogenic codons are associated with elevated cancer risk not present with mutations at other sites.
|
31697451 |
2020 |
|
Malignant Neoplasms
|
|
0.020 |
GeneticVariation
|
BEFREE |
Additionally, the specific p.G12R NRAS mutation in this case is a common somatic mutation in cancer cells, and analysis of previously reported NRAS-RASopathy cases suggests that mutations at traditionally oncogenic codons are associated with elevated cancer risk not present with mutations at other sites.
|
31697451 |
2020 |
|
Neoplasms
|
|
0.020 |
GeneticVariation
|
BEFREE |
Since hypoxic microenvironments select for tumor cells with diminished therapeutic response, we investigated whether hypoxia unequally increases resistance to 3-BrPA in wt p53 MelJuso melanoma harbouring (Q61L)-mutant NRAS and wt BRAF, C8161 melanoma with (G12D)-mutant KRAS (G464E)-mutant BRAF, and A549 lung carcinoma with a KRAS (G12S)-mutation.
|
27863474 |
2016 |
|
Neoplasms
|
|
0.020 |
GeneticVariation
|
BEFREE |
DNA was extracted from tumor and plasma samples and tested for the common codon 12 mutations G12D, G12V, and G12C by chip-based digital PCR.
|
27591291 |
2016 |
|
Primary malignant neoplasm
|
|
0.020 |
GeneticVariation
|
BEFREE |
GeLC-MRM detected KRAS mutant variants (G12D, G13D, G12V, G12S) in a panel of cancer cell lines.
|
22671702 |
2012 |
|
Malignant Neoplasms
|
|
0.020 |
GeneticVariation
|
BEFREE |
GeLC-MRM detected KRAS mutant variants (G12D, G13D, G12V, G12S) in a panel of cancer cell lines.
|
22671702 |
2012 |
|
Alveolar rhabdomyosarcoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
One patient with a p.Gly12Ser mutation was diagnosed with retroperitoneal rhabdomyosarcoma alveolar type at the age of 5 years.
|
31394527 |
2019 |
|
Neoplasm, Residual
|
|
0.010 |
GeneticVariation
|
BEFREE |
In addition to WT1 overexpression, other MRD positive markers were: NPM1 (Type A, B, K), DNMT3A (R882H), MLL-PTD, IDH1 (R132H) and KRAS (G12S).
|
30457973 |
2019 |
|
Brain Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
Further, one of the patients (c.35G>A; p.(Gly12Asp)) had a myeloproliferative disorder, and one subject (c.34G>C; p.(Gly12Arg)) exhibited an uncharacterized brain tumour.
|
28594414 |
2017 |
|
Noonan syndrome-like disorder with loose anagen hair
|
|
0.010 |
GeneticVariation
|
BEFREE |
The facial and hair abnormalities of the HRAS p.Gly13Asp individuals differ from the typical pattern observed in those showing the common HRAS (p.Gly12Ser) mutation, with less coarse facial features and slow growing, sparse hair with abnormal texture, the latter resembling the pattern observed in Noonan syndrome-like disorder with loose anagen hair and individuals harboring another amino acid substitution in HRAS (p.Gly13Cys).
|
28371260 |
2017 |